Variant report

Variant	rs34319978
Chromosome Location	chr11:67041137-67041138
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr11:67040980-67041240	GM12878	blood:	n/a	n/a
2	EBF1	chr11:67040800-67041146	GM12878	blood:	n/a	chr11:67041037-67041050
3	EBF1	chr11:67040779-67041293	GM12878	blood:	n/a	chr11:67041037-67041050
4	EBF1	chr11:67040847-67041230	GM12878	blood:	n/a	chr11:67041037-67041050
5	WRNIP1	chr11:67040972-67041140	GM12878	blood:	n/a	n/a
6	POLR2A	chr11:67034324-67041514	HL-60	blood:	n/a	n/a
7	POLR2A	chr11:67033578-67041547	HL-60	blood:	n/a	n/a
8	POLR2A	chr11:67033515-67041155	GM12892	blood:	n/a	n/a
9	CTCF	chr11:67041000-67041150	HRE	kidney:	n/a	n/a
10	MAX	chr11:67040955-67041267	NB4	blood:	n/a	n/a
11	CTCF	chr11:67040980-67041250	HUVEC	blood vessel:	n/a	chr11:67040988-67041001

No.	Distal block	Cell Line	Cell type
1	chr11:67039582..67041813-chr11:67071533..67074126,2	K562	blood:
2	chr11:67040152..67042460-chr11:67157852..67160394,2	MCF-7	breast:
3	chr11:67040558..67045868-chr11:67119770..67124610,5	K562	blood:
4	chr11:67038891..67042263-chr11:67140367..67142559,4	MCF-7	breast:

Variant related genes	Relation type
ADRBK1	TF binding region
ENSG00000172830	Chromatin interaction
ENSG00000175505	Chromatin interaction
ENSG00000175482	Chromatin interaction
ENSG00000172613	Chromatin interaction
ENSG00000256514	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs61763979	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv933183	chr11:67008447-67160993	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv897796	chr11:67021518-67186000	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
5	nsv897798	chr11:67024534-67065858	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv897799	chr11:67024534-67072623	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	nsv897800	chr11:67024534-67086298	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
9	nsv468603	chr11:67033076-67164495	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
10	nsv555253	chr11:67033076-67164495	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
11	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67034400-67041400	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr11:67034600-67041400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
3	chr11:67035400-67044400	Weak transcription	A549	lung
4	chr11:67035600-67041200	Genic enhancers	Gastric	stomach
5	chr11:67035600-67041400	Enhancers	Fetal Heart	heart
6	chr11:67035600-67041600	Flanking Active TSS	Primary T cells from cord blood	blood
7	chr11:67035600-67046400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr11:67035800-67044600	Enhancers	Left Ventricle	heart
9	chr11:67037000-67041400	Enhancers	Osteobl	bone
10	chr11:67037200-67041800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr11:67037200-67055800	Genic enhancers	Spleen	Spleen
12	chr11:67037600-67042600	Enhancers	NHDF-Ad	bronchial
13	chr11:67037800-67044600	Enhancers	Liver	Liver
14	chr11:67037800-67046200	Enhancers	Stomach Mucosa	stomach
15	chr11:67037800-67046800	Weak transcription	Aorta	Aorta
16	chr11:67038200-67041600	Enhancers	Muscle Satellite Cultured Cells	--
17	chr11:67038200-67042800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:67038200-67055200	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr11:67038400-67041400	Enhancers	Brain Substantia Nigra	brain
20	chr11:67038400-67044200	Genic enhancers	Fetal Muscle Leg	muscle
21	chr11:67038400-67044800	Genic enhancers	Fetal Stomach	stomach
22	chr11:67038400-67045800	Genic enhancers	Fetal Intestine Small	intestine
23	chr11:67038400-67047000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr11:67038600-67041400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr11:67038600-67041400	Genic enhancers	NHEK	skin
26	chr11:67038600-67042200	Weak transcription	K562	blood
27	chr11:67038600-67044200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:67038600-67044600	Enhancers	Right Atrium	heart
29	chr11:67038800-67041400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr11:67038800-67041400	Genic enhancers	Fetal Brain Female	brain
31	chr11:67038800-67041600	Enhancers	Brain Hippocampus Middle	brain
32	chr11:67038800-67044200	Genic enhancers	Fetal Muscle Trunk	muscle
33	chr11:67038800-67044600	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr11:67039000-67041400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:67039000-67042800	Enhancers	Psoas Muscle	Psoas
36	chr11:67039000-67043400	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr11:67039000-67044800	Enhancers	Brain Anterior Caudate	brain
38	chr11:67039200-67043400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr11:67039200-67043800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr11:67039200-67044200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr11:67039200-67044200	Weak transcription	Fetal Kidney	kidney
42	chr11:67039200-67044600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr11:67039400-67041400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr11:67039400-67041400	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr11:67039400-67043400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr11:67039400-67044200	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr11:67039600-67041200	Genic enhancers	Sigmoid Colon	Sigmoid Colon
48	chr11:67039600-67042000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr11:67039600-67042200	Weak transcription	Brain Germinal Matrix	brain
50	chr11:67039600-67042400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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